LOCUS       NM_000046               4852 bp    mRNA    linear   PRI 15-JUL-2024
DEFINITION  Homo sapiens arylsulfatase B (ARSB), transcript variant 1, mRNA.
ACCESSION   NM_000046
VERSION     NM_000046.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4852)
  AUTHORS   Bhattacharyya,S., O-Sullivan,I. and Tobacman,J.K.
  TITLE     N-Acetylgalactosamine-4-sulfatase (Arylsulfatase B) Regulates PD-L1
            Expression in Melanoma by an HDAC3-Mediated Epigenetic Mechanism
  JOURNAL   Int J Mol Sci 25 (11), 5851 (2024)
   PUBMED   38892038
  REMARK    GeneRIF: N-Acetylgalactosamine-4-sulfatase (Arylsulfatase B)
            Regulates PD-L1 Expression in Melanoma by an HDAC3-Mediated
            Epigenetic Mechanism.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4852)
  AUTHORS   Tobacman,J.K. and Bhattacharyya,S.
  TITLE     Profound Impact of Decline in N-Acetylgalactosamine-4-Sulfatase
            (Arylsulfatase B) on Molecular Pathophysiology and Human Diseases
  JOURNAL   Int J Mol Sci 23 (21), 13146 (2022)
   PUBMED   36361933
  REMARK    GeneRIF: Profound Impact of Decline in
            N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B) on Molecular
            Pathophysiology and Human Diseases.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4852)
  AUTHORS   D'Avanzo,F., Zanetti,A., De Filippis,C. and Tomanin,R.
  TITLE     Mucopolysaccharidosis Type VI, an Updated Overview of the Disease
  JOURNAL   Int J Mol Sci 22 (24), 13456 (2021)
   PUBMED   34948256
  REMARK    GeneRIF: Mucopolysaccharidosis Type VI, an Updated Overview of the
            Disease.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4852)
  AUTHORS   Marek-Yagel,D., Eliyahu,A., Veber,A., Shalva,N., Philosoph,A.M.,
            Barel,O., Javasky,E., Pode-Shakked,B., Loewenthal,N., Anikster,Y.
            and Staretz-Chacham,O.
  TITLE     Deep intronic variant in the ARSB gene as the genetic cause for
            Maroteaux-Lamy syndrome (MPS VI)
  JOURNAL   Am J Med Genet A 185 (12), 3804-3809 (2021)
   PUBMED   34435740
  REMARK    GeneRIF: Deep intronic variant in the ARSB gene as the genetic
            cause for Maroteaux-Lamy syndrome (MPS VI).
REFERENCE   5  (bases 1 to 4852)
  AUTHORS   He,M.F., Yang,J., Dong,M.J., Wang,Y.T. and Liu,H.
  TITLE     Compound heterozygous missense mutations in a Chinese
            mucopolysaccharidosis type VI patient: a case report
  JOURNAL   BMC Ophthalmol 21 (1), 214 (2021)
   PUBMED   33985463
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4852)
  AUTHORS   Kobayashi,T., Honke,K., Jin,T., Gasa,S., Miyazaki,T. and Makita,A.
  TITLE     Components and proteolytic processing sites of arylsulfatase B from
            human placenta
  JOURNAL   Biochim Biophys Acta 1159 (3), 243-247 (1992)
   PUBMED   1390929
REFERENCE   7  (bases 1 to 4852)
  AUTHORS   Jin,W.D., Jackson,C.E., Desnick,R.J. and Schuchman,E.H.
  TITLE     Mucopolysaccharidosis type VI: identification of three mutations in
            the arylsulfatase B gene of patients with the severe and mild
            phenotypes provides molecular evidence for genetic heterogeneity
  JOURNAL   Am J Hum Genet 50 (4), 795-800 (1992)
   PUBMED   1550123
REFERENCE   8  (bases 1 to 4852)
  AUTHORS   Litjens,T., Morris,C.P., Robertson,E.F., Peters,C., von Figura,K.
            and Hopwood,J.J.
  TITLE     An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results
            in a severe Maroteaux-Lamy phenotype
  JOURNAL   Hum Mutat 1 (5), 397-402 (1992)
   PUBMED   1301949
REFERENCE   9  (bases 1 to 4852)
  AUTHORS   Wicker,G., Prill,V., Brooks,D., Gibson,G., Hopwood,J., von
            Figura,K. and Peters,C.
  TITLE     Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate
            clinical phenotype caused by substitution of valine for glycine at
            position 137 of arylsulfatase B
  JOURNAL   J Biol Chem 266 (32), 21386-21391 (1991)
   PUBMED   1718978
REFERENCE   10 (bases 1 to 4852)
  AUTHORS   Litjens,T., Morris,C.P., Gibson,G.J., Beckmann,K.R. and
            Hopwood,J.J.
  TITLE     Human N-acetylgalactosamine-4-sulphatase: protein maturation and
            isolation of genomic clones
  JOURNAL   Biochem Int 24 (2), 209-215 (1991)
   PUBMED   1930244
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M32373.1, AC114963.2 and
            AC025755.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000046.4.
            
            Summary: Arylsulfatase B encoded by this gene belongs to the
            sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate
            groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and
            dermatan sulfate. The protein is targeted to the lysozyme.
            Mucopolysaccharidosis type VI is an autosomal recessive lysosomal
            storage disorder resulting from a deficiency of arylsulfatase B.
            Two alternatively spliced transcript variants encoding distinct
            isoforms have been found for this gene. [provided by RefSeq, Dec
            2016].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because transcript sequence consistent with
            the reference genome assembly was not available for all regions of
            the RefSeq transcript. The extent of this transcript is supported
            by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.209764.1,
                                           SRR1803613.195264.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264914.10/ ENSP00000264914.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1187              M32373.1           498-1684
            1188-1188           AC114963.2         67436-67436
            1189-1881           M32373.1           1686-2378
            1882-4852           AC025755.5         60929-63899
FEATURES             Location/Qualifiers
     source          1..4852
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.1"
     gene            1..4852
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /note="arylsulfatase B"
                     /db_xref="GeneID:411"
                     /db_xref="HGNC:HGNC:714"
                     /db_xref="MIM:611542"
     exon            1..374
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /inference="alignment:Splign:2.1.0"
     CDS             63..1664
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /EC_number="3.1.6.12"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; N-acetylgalactosamine-4-sulfatase"
                     /codon_start=1
                     /product="arylsulfatase B isoform 1 precursor"
                     /protein_id="NP_000037.2"
                     /db_xref="CCDS:CCDS4043.1"
                     /db_xref="GeneID:411"
                     /db_xref="HGNC:HGNC:714"
                     /db_xref="MIM:611542"
                     /translation="MGPRGAASLPRGPGPRRLLLPVVLPLLLLLLLAPPGSGAGASRP
                     PHLVFLLADDLGWNDVGFHGSRIRTPHLDALAAGGVLLDNYYTQPLCTPSRSQLLTGR
                     YQIRTGLQHQIIWPCQPSCVPLDEKLLPQLLKEAGYTTHMVGKWHLGMYRKECLPTRR
                     GFDTYFGYLLGSEDYYSHERCTLIDALNVTRCALDFRDGEEVATGYKNMYSTNIFTKR
                     AIALITNHPPEKPLFLYLALQSVHEPLQVPEEYLKPYDFIQDKNRHHYAGMVSLMDEA
                     VGNVTAALKSSGLWNNTVFIFSTDNGGQTLAGGNNWPLRGRKWSLWEGGVRGVGFVAS
                     PLLKQKGVKNRELIHISDWLPTLVKLARGHTNGTKPLDGFDVWKTISEGSPSPRIELL
                     HNIDPNFVDSSPCPRNSMAPAKDDSSLPEYSAFNTSVHAAIRHGNWKLLTGYPGCGYW
                     FPPPSQYNVSEIPSSDPPTKTLWLFDIDRDPEERHDLSREYPHIVTKLLSRLQFYHKH
                     SVPVYFPAQDPRCDPKATGVWGPWM"
     exon            375..561
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /inference="alignment:Splign:2.1.0"
     exon            562..752
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /inference="alignment:Splign:2.1.0"
     exon            753..960
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /inference="alignment:Splign:2.1.0"
     exon            961..1204
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1205..1275
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1276..1398
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1399..4852
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4828..4833
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /note="hexamer: AGTAAA"
     polyA_site      4852
                     /gene="ARSB"
                     /gene_synonym="ASB; G4S; MPS6"
                     /note="major polyA site"
ORIGIN      
        1 attctatcag cggtacaagg ggctggtggc gccacaggcg ctgggaccgc gggcggacaa
       61 ggatgggtcc gcgcggcgcg gcgagcttgc cccgaggccc cggacctcgg cggctgctcc
      121 tccccgtcgt cctcccgctg ctgctgctgc tgttgttggc gccgccgggc tcgggcgccg
      181 gggccagccg gccgccccac ctggtcttct tgctggcaga cgacctaggc tggaacgacg
      241 tcggcttcca cggctcccgc atccgcacgc cgcacctgga cgcgctggcg gccggcgggg
      301 tgctcctgga caactactac acgcagccgc tgtgcacgcc gtcgcggagc cagctgctca
      361 ctggccgcta ccagatccgt acaggtttac agcaccaaat aatctggccc tgtcagccca
      421 gctgtgttcc tctggatgaa aaactcctgc cccagctcct aaaagaagca ggttatacta
      481 cccatatggt cggaaaatgg cacctgggaa tgtaccggaa agaatgcctt ccaacccgcc
      541 gaggatttga tacctacttt ggatatctcc tgggtagtga agattattat tcccatgaac
      601 gctgtacatt aattgacgct ctgaatgtca cacgatgtgc tcttgatttt cgagatggcg
      661 aagaagttgc aacaggatat aaaaatatgt attcaacaaa catattcacc aaaagggcta
      721 tagccctcat aactaaccat ccaccagaga agcctctgtt tctctacctt gctctccagt
      781 ctgtgcatga gccccttcag gtccctgagg aatacttgaa gccatatgac tttatccaag
      841 acaagaacag gcatcactat gcaggaatgg tgtcccttat ggatgaagca gtaggaaatg
      901 tcactgcagc tttaaaaagc agtgggctct ggaacaacac ggtgttcatc ttttctacag
      961 ataacggagg gcagactttg gcagggggta ataactggcc ccttcgagga agaaaatgga
     1021 gcctgtggga aggaggcgtc cgaggggtgg gctttgtggc aagccccttg ctgaagcaga
     1081 agggcgtgaa gaaccgggag ctcatccaca tctctgactg gctgccaaca ctcgtgaagc
     1141 tggccagggg acacaccaat ggcacaaagc ctctggatgg cttcgacgtg tggaaaacca
     1201 tcagtgaagg aagcccatcc cccagaattg agctgctgca taatattgac ccgaacttcg
     1261 tggactcttc accgtgtccc aggaacagca tggctccagc aaaggatgac tcttctcttc
     1321 cagaatattc agcctttaac acatctgtcc atgctgcaat tagacatgga aattggaaac
     1381 tcctcacggg ctacccaggc tgtggttact ggttccctcc accgtctcaa tacaatgttt
     1441 ctgagatacc ctcatcagac ccaccaacca agaccctctg gctctttgat attgatcggg
     1501 accctgaaga aagacatgac ctgtccagag aatatcctca catcgtcaca aagctcctgt
     1561 cccgcctaca gttctaccat aaacactcag tccccgtgta cttccctgca caggaccccc
     1621 gctgtgatcc caaggccact ggggtgtggg gcccttggat gtaggatttc agggaggcta
     1681 gaaaaccttt caattggaag ttggacctca ggccttttct cacgactctt gtctcatttg
     1741 ttatcccaac ctgggttcac ttggcccttc tcttgctctt aaaccacacc gaggtgtcta
     1801 atttcaaccc ctaatgcatt taagaagctg ataaaatctg caacactcct gctgttggct
     1861 ggagcatgtg tctagaggtg ggggtggctg ggtttatccc cctttcctaa gccttgggac
     1921 agctgggaac ttaacttgaa ataggaagtt ctcactgaat cctggaggct ggaacagctg
     1981 gctcttttag actcacaagt cagacgttcg attcccctct gccaatagcc agttttattg
     2041 gagtgaatca catttcttac gcaaatgaag ggagcagaca gtgattaatg gttctgttgg
     2101 ccaaggcttc tccctgtcgg tgaaggatca tgttcaggca ctccaagtga accacccctc
     2161 ttggttcacc ccttactcac ttatctcatc acagagcata aggcccattt tgttgttcag
     2221 gtcaacagca aaatgcctgc accatgactg tggcttttaa aataaagaaa tgtgttttta
     2281 tcgtaattta tttcccccca gccattgctc actctgtcta gacttcctgc cacttccaat
     2341 tcttctgtgg cttttcctgc ctttcctttt gacctcagta gtcctatccc tgggaaggcc
     2401 actttgcttc tctacctgag cacccctgat ttctggaacg ctgctgagcc ctgccttact
     2461 tttgccccta gggctgaagc tagaggcctc cccgtaatag gcggtggagt tgctctgtga
     2521 ggatgttcat ggtagacact aagagggctg ggtgggagat gcttggctct gtggcatctg
     2581 ttcagcgagg cttttcctat attgcatgga gttagtcatt gtgattgtag ctttatttca
     2641 taatatatta agacttgcac tgctatttac tagcagtgag aagaaacctc aggaaaggat
     2701 atgaaaaagc aagtggccag tgtctgggat actgggcctt ggtaaagcag aggagggcac
     2761 acccacagtc ctcttattct ctgttttact gcttgttttg aggttctggg gtctggcaaa
     2821 gaggatgcag tttgacacct gcagcccttt ctcaatccca ctaatgtctt actaatgtgg
     2881 aacagtccat attagctcca gagagtgtca aacccagaga aatgtgtgca aaaatgatac
     2941 tcttttctgc attagcccca ccattgtgtt caccaatgct tggaacactg cctgaaggca
     3001 ctcatttttt aatttttatt ttatttttaa ttttttatat ctttatgaga cgatctcact
     3061 ctgtcaccag gttggagtac agtggtacaa tcacaactca ccgtagcctc aaactcctgg
     3121 gctcaagtga ttctcccacc tcaggcaccc aaatagctgg aactacaggc atataccgcc
     3181 acacccagct aattttattt tttgaaaaga caaggttccc tatgttgccc agctggtctt
     3241 aaactcctgg gctccagcaa ttatcccagc ttgggctcca aaagtgctgg gattacaggc
     3301 atgagtcacc atgcctggcc tcatttttta aaacaaatga ataaatggac aaatgagtaa
     3361 atgagaaagt ctcacaccat gaaagatgct agtccaatga gctgaataca gaggtaatat
     3421 aaatgtcttc cagctgttgc ttttctgttc tcaagctgcc cctcctgggg taggagcata
     3481 atctacatca ctgggcagtc acaggacact ctatagcaag gttgtagcgt cctctccagt
     3541 ggggggagaa aaggaactgt gcctaccaaa ggtactctct tgtcagcaat ttccatttct
     3601 atactttatg ggacactaga aactaaaagc aacaaataat ctgatataag tccttgtata
     3661 gtcatccttc aattcagtag caatattttc tggtcactac taacctgtat tgtattaaaa
     3721 tgagactatt ggaaggaaat ggtgctaaaa ctaataacat ctcttaccaa cctttaccca
     3781 actcctgggt tggcaaacag ctgaccaaac tgccatcacc tcccacttgg aagtgtatgg
     3841 ccgacagcat gaaatagctg agcccagatg ttccttctgc atcctccgaa tcccagggct
     3901 gggtgtaggt agccgttgga ggccatcgct acagggcacc tatctgttat cgctgctgtc
     3961 ctcccaacag ctgtctccag ttctagttcc ttggttttca ggcacagtgg gggatgttct
     4021 gcacccagtg gacttcaaaa gagttttgaa gacttaattt tttgtaaaac aagtacttga
     4081 gattttggtt tatccataat agaatgtatt tcattagatt ctctgattct atataagaat
     4141 gtgaaaagat tgatatattg ttgttagaaa taatgttatt tctttccaat tttttttttt
     4201 tttttttttg agatggagtc tcgctctgtc acccaggctg gagtgcagtg gtgtgatctc
     4261 ggctcactgc agcctctaac tcccaggttc aagctattct cctgcctcag cctcccaagt
     4321 agctggatta caggcataca ccaccacgcc tggctatgtt ttgtattttt cgtagagata
     4381 gggtttcacc atgttggcca ggctggtctc aaactcctga cctcaagtga tccacccact
     4441 tcagcttccc aaagcactgg gattacaggt gtgagccact gtgcccggca aattttttta
     4501 cctttacaga aggttttgct tatttaattg tgagctcatt tttctttgtt acttttgtcc
     4561 ccccagattt gggggacaaa ataaaattaa tcttttaaaa tgtgtcagcc atatgtatgg
     4621 ggcttccatt tggggtgagg agaaagttct ggaactagat agtggtcatg gttatacaac
     4681 atcataaatg caattactgc cactgaattg tatgttttaa agtggttaaa atgttaagtt
     4741 ttatgtttta ttacaatttt taaatgtgtc aaccaacttt atagtacata aattatatct
     4801 cagtaaagct gttaaataaa taaatatagt aaaaatttta gaactaaaaa aa
//
